Varaico: Literature-Extracted Genetic Variants

KMT2D

2,563 papers

RefSeq Summary

The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been sh...

Pfam Domains

zf-HC5HC2Haa 139–218UCSCPHD-like zinc-binding domain

PHDaa 229–273UCSCPHD-finger

PHDaa 276–320UCSCPHD-finger

PHDaa 1380–1427UCSCPHD-finger

PHDaa 1430–1474UCSCPHD-finger

zf-HC5HC2H_2aa 5030–5144UCSCPHD-zinc-finger like domain

Gene Aliases

HGNC Name

lysine methyltransferase 2D

HGNC Previous Symbols

TNRC21; MLL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003482.4

p.S3691F

c.11072C>T

Surrounding Variants

1 paper

NM_003482.4

p.G3690E

c.11069G>A

1 paper

NM_003482.4

p.A3689fs

c.11065_11066fs

3 papers

NM_003482.4

p.A3689_A3693delFs

c.11066_11078del13

1 paper

NM_003482.4

p.G3694C

c.11080G>T

1 paper

NM_003482.4

p.G3694V

c.11081G>T

1 paper

NM_003482.4

p.G3688A

c.11063G>C

2 papers

NM_003482.4

p.P3695S

c.11083C>T

1 paper

NM_003482.4

p.G3687D

c.11060G>A

1 paper

NM_003482.4

p.S3686C

c.11057C>G

1 paper

NM_003482.4

p.S3686P

c.11056T>C

1 paper

NM_003482.4

p.G3697R

c.11089G>C

1 paper

NM_003482.4

p.G3697R

c.11089G>A